ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs)

dbSNP: rs2142374907
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389040 SCV001590245 pathogenic Familial cancer of breast 2020-03-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). This variant has not been reported in the literature in individuals with PALB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro785Thrfs*16) in the PALB2 gene. It is expected to result in an absent or disrupted protein product.
Arcensus RCV001389040 SCV002564561 likely pathogenic Familial cancer of breast 2013-02-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001389040 SCV004187533 pathogenic Familial cancer of breast 2023-09-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004037700 SCV005029044 pathogenic Hereditary cancer-predisposing syndrome 2023-12-14 criteria provided, single submitter clinical testing The c.2353_2354delCC pathogenic mutation, located in coding exon 5 of the PALB2 gene, results from a deletion of two nucleotides at nucleotide positions 2353 to 2354, causing a translational frameshift with a predicted alternate stop codon (p.P785Tfs*16). This variant was identified amongst 273 Pakistani patients with personal and/or family history suggestive of hereditary breast cancer (Akbar F et al. Hered Cancer Clin Pract, 2022 Jun;20:24). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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